Cavernous Malformations

Cavernous malformations, also called cavernous venous malformations or, when in the brain, cerebral cavernous malformations, occur when blood vessels don’t form correctly.

In this condition, tiny blood vessels called capillaries group together. They grow with extremely thin walls that can leak easily. These are called lesions. These clusters of blood vessels can be less than 1/4 inch to 3 to 4 inches in size.

Cavernous malformations can form anywhere in the body, but are most likely to cause symptoms when they grow in the brain or spinal cord. Common symptoms include headaches or seizures. Experiencing symptoms depends on where the lesions grow and how many of the lesions are present.

Most of the time, these formations cause no problems. Many people never know that they have one. In some people, however, the lesions can burst and bleed into the brain, causing stroke and death.

Facts about cavernous malformations

About one in 100 to 200 people have cavernous malformations. The malformations probably form before or shortly after birth. Some may come and go.

About five-tenths of a percent of the world population is affected by cerebral cavernous malformations.

About 25 percent of people with cavernous malformations in the brain never have symptoms.

Some experts believe that cavernous malformations run in families. Researchers have found genes that seem to be linked to a risk of these unusual formations. Some cases of cavernous malformations may be genetic, but others appear without a family history.

Symptoms

Symptoms of cavernous malformations depend on the location and size of the malformation. Although children sometimes have symptoms, most people who have symptoms are between 20 and 50 years old.

These are physical symptoms:

Headaches

Seizures

Changes in hearing or vision

Weakness

Paralysis

Difficulty thinking clearly or with remembering things

Complications of cavernous malformations include:

Hemorrhage (stroke)

Headache

Seizure

Death

When to call the doctor

Most people only find out about a cavernous malformation when it bleeds. This causes stroke in some people. If you notice symptoms, such as seizure, numbness, vomiting, or physical weakness, go immediately to the emergency room or call 911 to get help.

Diagnosis

Doctors typically take a medical history and do a physical exam. The final diagnosis is usually made based on imaging tests that show areas of blood flow. These tests could include:

MRI scan

Electroencephalogram

CT scan

Blood tests

Gene testing is available in some clinics

Treatment

A treatment plan could include:

Medication for symptoms, such as antiepileptic drugs for seizures

Surgery to remove the blood vessels

Performing an MRI at regular intervals to keep an eye on a lesion

Prevention

Currently, cavernous malformations can’t be prevented. Researchers hope that by learning more about the genes linked to these growths, prevention could become possible. Prenatal genetic testing and counseling are options in some clinics.